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. 2022 Mar 31;12:5435. doi: 10.1038/s41598-022-09403-6

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© The Author(s) 2022

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Features of the four novel candidate causal variants. Note the predicted protein changes of the detected variants indicated in red. ((A) KIR2DS1:p.Gln159*⁸², (B) NOTCH3:p.Cys44del⁷⁶, (C) RIOX1:p.Ala133_Glu142del⁸³, (D) PCDH15:p.Leu867Val⁸⁴).